Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy

@article{Steenhout1990CarnitineDW,
  title={Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy},
  author={Philippe G Steenhout and Carlie Elmer and Anne Clercx and Denise Blum and D. Gnat and S. van Erum and Françoise Vertongen and Esther Vamos},
  journal={Journal of Inherited Metabolic Disease},
  year={1990},
  volume={13},
  pages={69-75}
}
A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose influsions. Total serum carnitine from cord blood was 1.65 nmoles/ml and was… CONTINUE READING

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Keeling’s Fetal and Neonatal Pathology

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